GJB2 manual evidence and source boundaries Manual

GJB2 manual evidence and source boundaries

Connexin-26 supplies the subunits of an intercellular channel. Its single channel core covers molecular exchange, electrical coupling and structural assembly. Cargo delivery to the surface is a different relationship from doing the delivery.

Selected primary evidence

Source excerpts appear in the review; the separately accessed calcium-wave passage is reproduced here and cited from its annotation. Full-cache availability and actual reading scope are separate: selected original sections are not a claim to have inspected every figure or supplement.

Interactome and product limits

HuRI, PMID:32296183 supplies 36 incoming partner contexts. The authentic MITAB rows retain P29033 ORF 504 with partial DNA identification. Pooling, array and validated-two-hybrid projections describe stages of the source pipeline, not three independent physiological experiments. Thirty-five literal accession joins are positive; their generic binding labels are uninformative without a demonstrated target mechanism. This does not reject the measured pairs.

Raw context 16 instead carries Q0VAB0 while its candidate source partner is K7ER80/ORF 70162. Both current products are 259 residues but differ at position 136 (C versus R). The retained partial clone identification does not establish equivalence. Its generic annotation is removed as uninformative while the positive gene-level pair remains compatible. A suspected IntAct mapping issue requests a check without asserting a replacement accession; both literal products and the full-clone question are preserved. Official partner FUNCTION/CAUTION scope identifies roles without automatically transferring them to GJB2.

One official human P29033 sequence of 226 residues is established. Substitutions, deletions, fluorescent fusions and purification tags are experimental constructs, not additional natural isoforms. The official record declares no alternative product. Sequence identity and four transmembrane features support the product account; they are not functional assays.

Actual ancestral and ortholog evidence

The retained PTHR11984 book places human P29033 at AN401/PTN002485530. The 948-node tree and 2,873-column alignment were inspected, including four membrane windows. Three ancestral assertion placements govern the six incoming IBAs: AN0/PTN008334405, AN394/PTN000240686 and AN365/PTN002633521. The archive preserves every literal donor group. Target self evidence is legitimate descendant grounding, and donor count is not a quality metric.

The inner-ear-development assertion traces through rat P21994/AN407 to an independent IEP record citing PMID:10570462(https://pubmed.ncbi.nlm.nih.gov/10570462/). Its accessible abstract concerns developmental immunostaining; original Methods and Results remain unavailable. Expression and hearing phenotypes do not resolve which developmental work the product performs. This process remains undecided without alleging an ancestral-placement failure.

The mouse Q00977 record identifies ENSMUSP00000054343 (current version .8) and independently grounded experimental annotations. These are distinct from reciprocal electronic rows. PMID:15692151(https://pubmed.ncbi.nlm.nih.gov/15692151/) was read at abstract level; original construct/species details were not recovered. The donor-record check does not claim full-paper verification.

Curated trafficking context

Reactome R-HSA-451056 maps ERGIC input complex 190641 through entity 190614 to human P29033 residues 1–226; surface output complex 112301 uses entity 53211. Each complex contains six subunits. This is target cargo/location evidence, not a catalytic trafficking role; reaction-level cytosol is not a soluble-protein location.

The other four pathway references provide assembly and delivery context. Cx43-specific overview statements are not transferred to Cx26. The accessible PMID:11719551(https://pubmed.ncbi.nlm.nih.gov/11719551/) abstract distinguishes BFA-resistant traffic from nocodazole-perturbed assembly; the event title does not settle microtubule dependence.

Clinical and emerging context

Reference assessments preserve historical variant interpretations. The M34T conclusion of PMID:14694360 is explicitly marked disputed against PMID:31160754, rather than silently rewritten as a current clinical classification. Papers without an abstract or inspected body remain scientifically unverified despite verified identifiers.

PMID:41514193(https://pmc.ncbi.nlm.nih.gov/articles/PMC12970211/) informs a question, not a new function. Selected original text reports nuclear observations but describes human-cell ChIP alignment to a mouse genome and inconsistent IP-MS sample provenance. These reporting issues require clarification; they do not prove fabrication. ChIP/co-IP and reporter effects do not establish direct sequence-specific DNA contact. No nuclear, DNA-binding or transcription-regulator annotation is proposed.

Incoming-context disposition index

Raw indices refer to the dated exact source objects in the archive. Forecast indices also match the actual native seed exactly.

Raw Forecast/native GO term Original source Decision
0 0 GO:0005243 GO_REF:0000033 ACCEPT
1 3 GO:0005243 GO_REF:0000107 ACCEPT
2 1 GO:0005243 PMID:12767933 ACCEPT
3 2 GO:0005243 PMID:21094651 ACCEPT
4 4 GO:0005509 PMID:26753910 KEEP_AS_NON_CORE
5 5 GO:0005515 PMID:32296183 REMOVE
6 6 GO:0005515 PMID:32296183 REMOVE
7 7 GO:0005515 PMID:32296183 REMOVE
8 8 GO:0005515 PMID:32296183 REMOVE
9 9 GO:0005515 PMID:32296183 REMOVE
10 10 GO:0005515 PMID:32296183 REMOVE
11 11 GO:0005515 PMID:32296183 REMOVE
12 12 GO:0005515 PMID:32296183 REMOVE
13 13 GO:0005515 PMID:32296183 REMOVE
14 14 GO:0005515 PMID:32296183 REMOVE
15 15 GO:0005515 PMID:32296183 REMOVE
16 16 GO:0005515 PMID:32296183 REMOVE
17 17 GO:0005515 PMID:32296183 REMOVE
18 18 GO:0005515 PMID:32296183 REMOVE
19 19 GO:0005515 PMID:32296183 REMOVE
20 20 GO:0005515 PMID:32296183 REMOVE
21 21 GO:0005515 PMID:32296183 REMOVE
22 22 GO:0005515 PMID:32296183 REMOVE
23 23 GO:0005515 PMID:32296183 REMOVE
24 24 GO:0005515 PMID:32296183 REMOVE
25 25 GO:0005515 PMID:32296183 REMOVE
26 26 GO:0005515 PMID:32296183 REMOVE
27 27 GO:0005515 PMID:32296183 REMOVE
28 28 GO:0005515 PMID:32296183 REMOVE
29 29 GO:0005515 PMID:32296183 REMOVE
30 30 GO:0005515 PMID:32296183 REMOVE
31 31 GO:0005515 PMID:32296183 REMOVE
32 32 GO:0005515 PMID:32296183 REMOVE
33 33 GO:0005515 PMID:32296183 REMOVE
34 34 GO:0005515 PMID:32296183 REMOVE
35 35 GO:0005515 PMID:32296183 REMOVE
36 36 GO:0005515 PMID:32296183 REMOVE
37 37 GO:0005515 PMID:32296183 REMOVE
38 38 GO:0005515 PMID:32296183 REMOVE
39 39 GO:0005515 PMID:32296183 REMOVE
40 40 GO:0005515 PMID:32296183 REMOVE
41 63 GO:0042802 PMID:17551008 KEEP_AS_NON_CORE
42 64 GO:0042802 PMID:19340074 KEEP_AS_NON_CORE
43 67 GO:1903763 PMID:12767933 ACCEPT
44 56 GO:0007154 GO_REF:0000002 TOO_GENERAL
45 59 GO:0007267 GO_REF:0000024 ACCEPT
46 57 GO:0007267 GO_REF:0000033 ACCEPT
47 58 GO:0007267 GO_REF:0000107 ACCEPT
48 60 GO:0010644 GO_REF:0000108 ACCEPT
49 61 GO:0016264 GO_REF:0000033 ACCEPT
50 62 GO:0016264 PMID:12767933 ACCEPT
51 65 GO:0048839 GO_REF:0000033 UNDECIDED
52 66 GO:0055085 PMID:12767933 ACCEPT
53 68 GO:1990349 GO_REF:0000033 ACCEPT
54 71 GO:1990349 GO_REF:0000107 ACCEPT
55 69 GO:1990349 PMID:12767933 ACCEPT
56 70 GO:1990349 PMID:21094651 ACCEPT
57 41 GO:0005793 Reactome:R-HSA-451056 KEEP_AS_NON_CORE
58 49 GO:0005886 GO_REF:0000120 ACCEPT
59 47 GO:0005886 PMID:12767933 ACCEPT
60 42 GO:0005886 PMID:16849369 ACCEPT
61 43 GO:0005886 PMID:17551008 ACCEPT
62 44 GO:0005886 PMID:19340074 ACCEPT
63 45 GO:0005886 PMID:19384972 ACCEPT
64 48 GO:0005886 PMID:21094651 ACCEPT
65 46 GO:0005886 PMID:26753910 ACCEPT
66 50 GO:0005886 Reactome:R-HSA-451056 ACCEPT
67 52 GO:0005921 GO_REF:0000120 ACCEPT
68 51 GO:0005921 PMID:12767933 ACCEPT
69 53 GO:0005922 GO_REF:0000033 ACCEPT
70 55 GO:0005922 GO_REF:0000120 ACCEPT
71 54 GO:0005922 PMID:21094651 ACCEPT